Dystonia-11, Myoclonic malady
Categories: Genetic diseases, Rare diseases
Aliases & Descriptions for Dystonia-11, Myoclonic:
Penetrance: reduced penetrance on maternal transmission of the disease allele has been observed, suggesting that maternal genomic imprinting of sgce suppresses expression of the maternally inherited sgce allele [zimprich et al 2001]...
Global: Genetic diseases, Rare diseases
Genetics Home Reference:25 Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom.
MalaCards based summary: Dystonia-11, Myoclonic, also known as myoclonic dystonia, is related to dystonia 26, myoclonic and dystonia, and has symptoms including muscular hypotonia, torticollis and depression. An important gene associated with Dystonia-11, Myoclonic is SGCE (Sarcoglycan Epsilon). Affiliated tissues include cerebellum, and related mouse phenotype muscle.
OMIM:51 Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal... (159900) more...
UniProtKB/Swiss-Prot:69 Dystonia 11, myoclonic: A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.
Wikipedia:70 Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous... more...
GeneReviews for NBK1414
Human phenotypes related to Dystonia-11, Myoclonic:63 (show all 9)
UMLS symptoms related to Dystonia-11, Myoclonic:myoclonus, torticollis, tremor
Drugs for Dystonia-11, Myoclonic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Search NIH Clinical Center for Dystonia-11, Myoclonic
MalaCards organs/tissues related to Dystonia-11, Myoclonic:35
UniProtKB/Swiss-Prot genetic disease variations for Dystonia-11, Myoclonic:69 (show all 13)
Clinvar genetic disease variations for Dystonia-11, Myoclonic:5 (show all 13)
Copy number variations for Dystonia-11, Myoclonic from CNVD:6
Search GEO for disease gene expression data for Dystonia-11, Myoclonic.
Cellular components related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:
Biological processes related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet